Characterization and tissue distribution of N-acetyl hexosaminidase C: suggestive evidence for a separate hexosaminidase locus

Ann Hum Genet. 1976 Jul;40(1):55-66. doi: 10.1111/j.1469-1809.1976.tb00164.x.

Abstract

1. An electrophoretic system in which N-acetyl hexosaminidase C (HEX(C)) MIGRATES LESS ANODALLY THAN N-acetyl hexosaminidase A (HEX(A)) is described. 2. HEX(C) is shown to differ from HEX(A) and HEX(B) in substrate specificity, molecular size and affinity for Concanavalin-A. 3. HEX(C) is present in a wide range of adult and foetal tissues and in tissues from patients with Tay-Sachs and Sandhoff's diseases. It is particularly prominent in brain, testis, thymus and lymphoblastoid cell extracts and in several foetal tissues. 4. It is suggested that HEX(C) is coded at a separate gene locus from HEX(A) and HEX(B).

MeSH terms

  • Acetylglucosaminidase / analysis*
  • Adult
  • Brain / enzymology
  • Cells, Cultured
  • Child
  • Chromosome Mapping*
  • Concanavalin A
  • Electrophoresis, Starch Gel
  • Fetus / enzymology
  • Fibroblasts / enzymology
  • Hexosaminidases / analysis*
  • Humans
  • Hydrogen-Ion Concentration
  • Isoelectric Point
  • Isoenzymes / analysis*
  • Lipidoses / enzymology
  • Lipidoses / genetics
  • Lymphoid Tissue / enzymology
  • Male
  • Molecular Weight
  • Testis / enzymology
  • Thymus Gland / enzymology

Substances

  • Isoenzymes
  • Concanavalin A
  • Hexosaminidases
  • Acetylglucosaminidase